Gorlin-Goltz syndrome

Bartoš, Vladimı́r; Kullová, Milada; Adamicová, Katarína; Paučinová, Ivana

doi:10.14735/amko2019124

Cited by 11 publications

(9 citation statements)

References 7 publications

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“…From a prognostic standpoint, early diagnosis and appropriate treatment are critical. If diagnosed, lifelong care with interdisciplinary medical collaboration is necessary [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

18F-FDG PET/CT findings in nevoid basal cell carcinoma syndrome: a systematic review and a new case report

Zhang,

Jiang

et al. 2024

BMC Women's Health

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Background To demonstrate and analyze the 18F-FDG positron emission tomography/computed tomography (PET/CT) findings in this rare nevoid basal cell carcinoma syndrome (NBCCS). Case presentation A 71-year-old woman with the left invasive breast cancer was treated with hormone therapy for six months and underwent the 18F-FDG PET/CT examination for efficacy evaluation. 18F-FDG PET/CT revealed the improvement after treatment and other unexpected findings, including multiple nodules on the skin with 18F-FDG uptake, bone expansion of cystic lesions in the bilateral ribs, ectopic calcifications and dilated right ureter. She had no known family history. Then, the patient underwent surgical excision of the all skin nodules and the postoperative pathology were multiple basal cell carcinomas. Finally, the comprehensive diagnosis of NBCCS was made. The patient was still in follow-up. Additionally, we have summarized the reported cases (n = 3) with 18F-FDG PET/CT from the literature. Conclusions It is important to recognize this syndrome on 18F-FDG PET/CT because of different diagnoses and therapeutic consequences.

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“…From a prognostic standpoint, early diagnosis and appropriate treatment are critical. If diagnosed, lifelong care with interdisciplinary medical collaboration is necessary [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

18F-FDG PET/CT findings in nevoid basal cell carcinoma syndrome: a systematic review and a new case report

Zhang,

Jiang

et al. 2024

BMC Women's Health

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“…Cardiac fibromas comprise less than 5% of primary tumors of the heart [ 2 ] and represent the second most common tumor of the heart in children after rhabdomyoma [ 8 , 9 ]. They are exceptionally rare in adults [ 6 ] and may be associated with Gorlin-Goltz syndrome (multiple nevoid basal cell carcinomas, mandibular cysts, fused ribs, calcification of the falx cerebri, odontogenic keratocysts) [ 10 , 11 ]. Fibromas can be asymptomatic or present with significant arrhythmias, ventricular tachycardia being the most common type [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

Ventricular fibrillation and arrhythmia associated with cardiac fibromas involving both ventricles in a 1.5-year-old girl

et al. 2023

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This article reports the autopsy findings of a 1.5-year-old girl with no history of previous hospital admission who suddenly collapsed at home. After 45 minutes of resuscitation efforts, the cardiac activity was restored. During hospitalization, she had ventricular arrhythmia and extremely elevated cardiac troponin levels. Internal examination and immunohistochemistry revealed cardiac fibromas of the right and left ventricles and extensive hypoxic myocardial damage. The right ventricular fibroma demonstrated interdigitating and entrapped myocardium visible at the edges and within the central portion of the tumor. The left ventricular fibroma originated in the subepicardial region and propagated towards the endocardium.

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“…On the other hand, BCCs were presented in only 38.4% of American people with dark skin and 37.8% of the Japanese people. The authors concluded that the phenotypic diversity presented can be explained by mutations of the PTCH gene and impact of the environment of each ethnic group [15]. 1 1.8×1.6 cm in dimension, with a flat grayish lesion on its surface, 1.5 cm in largest diameter 2 1×0.8 cm in dimension.…”

Section: Discussionmentioning

confidence: 99%

An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome

et al. 2023

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Background:Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), nevoid basal cell carcinoma syndrome (NBCCS), and Jaw cyst-Basal cell nevus-Bifid rib syndrome, is a rare multisystemic syndrome that can affect a remarkable number of tissues and organs in the human body. Patients with this syndrome are in jeopardy of developing basal cell skin cancer during puberty or early adulthood. Case Report:Herein, we report a case of a 58-year-old woman who had multiple pigmented skin lesions and a palpable tumor of the left scapula. The patient underwent surgical excision of the above-mentioned lesions. The histopathological examination revealed that 10 of them were basal cell skin carcinomas (BCCs); therefore, the patient was proven to have the syndrome. She had a history of similar skin lesions, which were removed before the age of 20. Conclusions:This case highlights that rare phenomena, such as the presence of multiple BCCs, require additional investigations and a multidisciplinary approach since a rare and potentially life-threating condition might be the underlying cause. Early diagnosis of Gorlin syndrome is of paramount importance to facilitate the appropriate therapeutic approach, as directed by a multidisciplinary team. Patients with multiple skin lesions need to have regular assessments by their general practitioner or dermatologist, with dermoscopy serving as an important preventive measure. Furthermore, because pathogenesis of the syndrome is characterized by development of basal cell carcinomas, consecutive follow-up is of a great significance.

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Gorlin-Goltz syndrome

Cited by 11 publications

References 7 publications

18F-FDG PET/CT findings in nevoid basal cell carcinoma syndrome: a systematic review and a new case report

18F-FDG PET/CT findings in nevoid basal cell carcinoma syndrome: a systematic review and a new case report

Ventricular fibrillation and arrhythmia associated with cardiac fibromas involving both ventricles in a 1.5-year-old girl

An Easily Missed But Life-Threatening Diagnosis: A Case Report of Gorlin Syndrome

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